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Null Retinoschisin-Protein Expression from an RS1 c354del1-ins18 Mutation Causes Progressive and Severe XLRS in a Cross-Sectional Family Study
PURPOSE: Explore the retinoschisin (RS1) protein biochemical phenotype from an RS1 exon-5 deletion/insertion frame-shift mutation in an X-linked retinoschisis (XLRS) family and describe the clinical and electrophysiological features. METHODS: Six XLRS males underwent ophthalmologic examination and e...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2784021/ https://ncbi.nlm.nih.gov/pubmed/19474399 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-3839 |
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